| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.040 | GeneticVariation | BEFREE | The variant G534E is prevalent in the Spanish population (5.1%); however, p.E393Q is rare (< 1%) and none cosegregated with the FNMTC phenotype. | 29895015 | 2018 |
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|
0.040 | GeneticVariation | BEFREE | Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in a large kindred with nonsyndromic familial nonmedullary thyroid cancer (FNMTC). | 28222214 | 2017 |
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|
0.040 | GeneticVariation | BEFREE | These results are consistent with HABP2 G534E being a susceptibility gene in a subgroup of FNMTC, providing important diagnostic implications for this hereditary thyroid cancer. | 26832773 | 2016 |
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|
0.040 | GeneticVariation | BEFREE | Sanger sequencing was performed on peripheral blood DNA from probands from 37 Australian FNMTC kindreds to detect the G534E variant. | 27530615 | 2016 |
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|
0.020 | GeneticVariation | BEFREE | Further, mutation of BRAF V600E was observed in 12 (41.4%) FNMTCs and 29 (85.3%) NMTCs. | 21826673 | 2012 |
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|
0.020 | GeneticVariation | BEFREE | The T1799A BRAF mutation is not a germline mutation or susceptibility genetic event for FNMTC. | 16117812 | 2005 |
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|
0.010 | GeneticVariation | BEFREE | Whole-exome sequencing of an FNMTC kindred identified a novel Y1203H germline dual oxidase-2 (DUOX2) mutation. | 31501191 | 2019 |
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|
0.010 | GeneticVariation | BEFREE | The variant G534E is prevalent in the Spanish population (5.1%); however, p.E393Q is rare (< 1%) and none cosegregated with the FNMTC phenotype. | 29895015 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | We thus analyzed this new HABP2 p.R122W variant in our wide series of 32 unrelated FNMTC Italian kindreds. | 28779995 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | Further, mutation of BRAF V600E was observed in 12 (41.4%) FNMTCs and 29 (85.3%) NMTCs. | 21826673 | 2012 |